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Page 1
Analytical demands to use whole-genome sequencing in precision oncology.
Meggendorfer M, Jobanputra V, Wrzeszczynski KO, Roepman P, de Bruijn E, Cuppen E, Buttner R, Caldas C, Grimmond S, Mullighan CG, Elemento O, Rosenquist R, Schuh A, Haferlach T. Meggendorfer M, et al. Among authors: jobanputra v. Semin Cancer Biol. 2022 Sep;84:16-22. doi: 10.1016/j.semcancer.2021.06.009. Epub 2021 Jun 10. Semin Cancer Biol. 2022. PMID: 34119643 Free article. Review.
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.
Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin EL, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor JW, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung WK. Lewis MJ, et al. Among authors: jobanputra v. Circ Genom Precis Med. 2023 Apr;16(2):e003900. doi: 10.1161/CIRCGEN.122.003900. Epub 2023 Mar 3. Circ Genom Precis Med. 2023. PMID: 36866680 Free PMC article. No abstract available.
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Ganapathi M, Buchovecky CM, Cristo F, Ahimaz P, Ruzal-Shapiro C, Wou K, Inácio JM, Iglesias A, Belo JA, Jobanputra V. Ganapathi M, et al. Among authors: jobanputra v. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006248. doi: 10.1101/mcs.a006248. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36316122 Free PMC article.
The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.
Basturk O, Tan M, Bhanot U, Allen P, Adsay V, Scott SN, Shah R, Berger MF, Askan G, Dikoglu E, Jobanputra V, Wrzeszczynski KO, Sigel C, Iacobuzio-Donahue C, Klimstra DS. Basturk O, et al. Among authors: jobanputra v. Mod Pathol. 2016 Sep;29(9):1058-69. doi: 10.1038/modpathol.2016.98. Epub 2016 Jun 10. Mod Pathol. 2016. PMID: 27282351 Free PMC article.
Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.
Wrzeszczynski KO, Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Vacic V, Norel R, Bilal E, Bergmann EA, Moore Vogel JL, Bruce JN, Lassman AB, Canoll P, Grommes C, Harvey S, Parida L, Michelini VV, Zody MC, Jobanputra V, Royyuru AK, Darnell RB. Wrzeszczynski KO, et al. Among authors: jobanputra v. Neurol Genet. 2017 Jul 11;3(4):e164. doi: 10.1212/NXG.0000000000000164. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28740869 Free PMC article.
Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.
Wrzeszczynski KO, Felice V, Abhyankar A, Kozon L, Geiger H, Manaa D, London F, Robinson D, Fang X, Lin D, Lamendola-Essel MF, Khaira D, Dikoglu E, Emde AK, Robine N, Shah M, Arora K, Basturk O, Bhanot U, Kentsis A, Mansukhani MM, Bhagat G, Jobanputra V. Wrzeszczynski KO, et al. Among authors: jobanputra v. J Mol Diagn. 2018 Nov;20(6):822-835. doi: 10.1016/j.jmoldx.2018.06.007. Epub 2018 Aug 21. J Mol Diagn. 2018. PMID: 30138725 Free PMC article.
Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO, Koyama T, Rhrissorrakrai K, Robine N, Utro F, Emde AK, Chen BJ, Arora K, Shah M, Geiger H, Felice V, Dikoglu E, Rahman S, Fang A, Vacic V, Bergmann EA, Vogel JLM, Reeves C, Khaira D, Calabro A, Kim D, Lamendola-Essel MF, Esteves C, Agius P, Stolte C, Boockvar J, Demopoulos A, Placantonakis DG, Golfinos JG, Brennan C, Bruce J, Lassman AB, Canoll P, Grommes C, Daras M, Diamond E, Omuro A, Pentsova E, Orange DE, Harvey SJ, Posner JB, Michelini VV, Jobanputra V, Zody MC, Kelly J, Parida L, Wrzeszczynski KO, Royyuru AK, Darnell RB. Frank MO, et al. Among authors: jobanputra v. BMC Med Genomics. 2019 Apr 25;12(1):56. doi: 10.1186/s12920-019-0500-0. BMC Med Genomics. 2019. PMID: 31023376 Free PMC article.
Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma.
Wrzeszczynski KO, Rahman S, Frank MO, Arora K, Shah M, Geiger H, Felice V, Manaa D, Dikoglu E, Khaira D, Chimpiri AR, Michelini VV, Jobanputra V, Darnell RB, Powers S, Choi M. Wrzeszczynski KO, et al. Among authors: jobanputra v. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004424. doi: 10.1101/mcs.a004424. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31519698 Free PMC article.
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms.
Arora K, Shah M, Johnson M, Sanghvi R, Shelton J, Nagulapalli K, Oschwald DM, Zody MC, Germer S, Jobanputra V, Carter J, Robine N. Arora K, et al. Among authors: jobanputra v. Sci Rep. 2019 Dec 13;9(1):19123. doi: 10.1038/s41598-019-55636-3. Sci Rep. 2019. PMID: 31836783 Free PMC article.
139 results